Summarised data on the 35 Brazilian families affected by sarcoglycanopathies
| Mutations | Consequence | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| LGMD form | Family | No of patients | Allele 1 | Allele 2 | Allele 1 | Allele 2 | Consanguinity | Phenotype | References |
| *Families in which immunohistochemical analysis was not performed. †See text. ‡Mutations previously identified.22,32,33 §Cannot be excluded. ¶Not followed up until the age of 16. | |||||||||
| 2C | LG42 | 2M:1F | c.521delT | c.521delT | Frameshift | Frameshift | No | Mild | 19,22,26,29 |
| LG55 | 1M:3F | c.521delT | c.521delT | Frameshift | Frameshift | Yes | Severe | 19,22,26,29 | |
| LG96 | 1M | c.521delT | c.521delT | Frameshift | Frameshift | Yes | Severe | 19,22,26,29 | |
| LG97* | 1F | c.521delT | c.521delT | Frameshift | Frameshift | Yes | ?¶ | 22,26 | |
| LG92 | 1F | c.521delT | c.521delT | Frameshift | Frameshift | ?§ | ? | 19 | |
| LG93* | 1M:2F | c.521delT | c.521delT | Frameshift | Frameshift | Yes | Severe | – | |
| LG94 | 2F | c.521delT | c.521delT | Frameshift | Frameshift | No | ? | – | |
| LG95 | 1F | c.521delT | c.521delT | Frameshift | Frameshift | ? | ? | – | |
| 2D | LG16 | 1M:4F | c.229C>T | c.229C>T | R77C | R77C | Yes | Mild | 19,22,29,32 |
| LG30 | 2F | c.229C>T | c.229C>T | R77C | R77C | No | Mild | 19,22,29,32 | |
| LG56 | 1M:1F | c.229C>T | c.229C>T | R77C | R77C | ? | ? | 19,22,29 | |
| LG82 | 1F | c.229C>T | c.229C>T | R77C | R77C | Yes | ? | 19,22 | |
| LG84 | 1M:1F | c.229C>T | c.229C>T | R77C | R77C | Yes | Mild | 19,22 | |
| LG98 | 1F | c.229C>T | c.229C>T | R77C | R77C | ? | Mild | 19,22,29 | |
| LG99 | 1M | c.229C>T | c.229C>T | R77C | R77C | Yes | Severe | 19,22,29 | |
| LG7 | 2M:2F | c.229C>T‡ | c.850C>T | R77C | R284C | No | Mild | 19,22,32 | |
| LG81* | 1F | c.229C>T‡ | c.92T>C | R77C | L31P | No | Severe | 22 | |
| LG83 | 1F | c.229C>T | c.329G>T | R77C | R110L | No | Severe | 19 | |
| LG86 | 1M:1F | c.229C>T | c.739G>A | R77C | V247M | No | Mild | – | |
| LG78 | 3M | c.724G>T | c.850C>T | V242F | R284C | No | Mild | 34 | |
| LG87 | 1M | c.724G>T | c.724G>T | V242F | V242F | Yes | ? | 19 | |
| LG85 | 2F | c.269A>G | c.269A>G | Y90C | Y90C | Yes | Severe | – | |
| 2E | LG3 | 2M:1F | c.272G>C | c.272G>C | R91P | R91P | ? | Severe | 19,22,29,33 |
| LG100*1 | 1F | c.299T>A | c.299T>A | M100K | M100K | Yes | Severe | 22,33 | |
| LG101 | 1F | c.465-466delAG | c.465-466delAG | Frameshift | Frameshift | ? | Severe | 19,22,29,33 | |
| LG102 | 1F | c.323T>G‡ | c.622-2A>G | L108R | Aberrant splicing | No | Severe | 19,22,29,33 | |
| LG88* | 1F | c.299T>A | c.383384ins376-383 | M100K | Frameshift | No | Severe | – | |
| LG89* | 1M | c.595-598delAATG | c.595-598delAATG | Frameshift | Frameshift | Yes | Severe | – | |
| LG90 | 2M | c.2T>C | c.2T>C | ?† | ? | Yes | Mild/severe | 19 | |
| LG91 | 1M:1F | c.622-2A>G | c.622-2A>G | Aberrant splicing | Aberrant splicing | Yes | Severe | 19 | |
| 2F | LG26 | 1M:2F | c.656delC | c.656delC | Frameshift | Frameshift | Yes | Severe | 6,19,22,29 |
| LG43 | 1M:2F | c.656delC | c.656delC | Frameshift | Frameshift | Yes | Severe | 6,19,22,29 | |
| LG68 | 1M | c.656delC | c.656delC | Frameshift | Frameshift | Yes | Severe | 6,19,22,29 | |
| LG33* | 1F | c.656delC | c.656delC | Frameshift | Frameshift | Yes | Severe | 6,22 | |
| LG103 | 1F | c.784C>A | c.784C>A | E262K | E262K | Yes | Severe | 19,22,36,42 | |